S32N (p.Ser32Asn) variant of PLCG2 (P16885)
S32N (p.Ser32Asn) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs1238219389
- ClinGen CA396895456
- ClinVar RCV003326946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.278